Ann Hepatobiliary Pancreat Surg.  2022 Feb;26(1):69-75. 0000-0002-9045-2531.

Liver transplantation in pediatric patients with progressive familial intrahepatic cholestasis: Single center experience of seven cases

• Namgoong JM
• Hwang S
• Kwon H
• Ha S
• Kim KM
• Oh SH
• Hong SM

• KMID: 2526834
• DOI: http://doi.org/0000-0002-9045-2531

Abstract

Backgrounds/Aims
Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease requiring liver transplantation (LT). The objective of this study was to investigate the clinicopathological features and posttransplant courses of seven LT recipients with PFIC.
Methods
This was a retrospective single-center study of patients with PFIC who underwent LT from January 2013 to June 2020.
Results
Two and five patients were diagnosed with PFIC type 1 and type 2, respectively. For all seven patients, age of PFIC onset was at birth. Jaundice was present in all cases. Mean pretransplant total and direct bilirubin levels were 16.1 ± 8.1 mg/dL and 12.4 ± 6.2 mg/dL, respectively. Median patient age and body weight at LT were 10 months and 7 kg, respectively. Types of donors were mothers of patients in four and deceased donors in three. All five patients with PFIC type 2 recovered uneventfully. One patient each with PFIC type 1 underwent retransplantation due to graft failure or died due to multi-organ failure. Overall graft and patient survival rates at five years were 66.7% and 83.3%, respectively. Bile salt export pump immunohistochemical staining showed normal canalicular expression in two patients with PFIC type 1, focal loss in two patients with PFIC type 2, and total loss in three patients with PFIC type 2.
Conclusions
LT is currently the only effective treatment for PFIC-associated end-stage liver diseases. It is mandatory to perform regular follow-up due to the risk of complications including steatohepatitis, especially for patients with PFIC type 1.

Keyword

Genetic diseases; Cholestasis; Liver transplantation; Liver cirrhosis; Gene mutation

Figure

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  Fig. 1 Peritransplant imaging findings of seven cases with pretransplant, explant liver, early posttransplant, and late follow-up images. (A) Case no. 1 who received a split hyper-reduced left lateral section graft. (B) Case no. 2 who received a left lateral section graft. Multiple hepatic masses were pathologically diagnosed of hemangiomas, but two of them were hepatocellular carcinomas. (C) Case no. 3 who received a split left lateral section graft. (D) Case no. 4 who received a hyper-reduced left lateral section graft. (E) Case no. 5 who received a left lateral section graft. (F) Case no. 6 who received a whole liver graft. The patient died of graft failure and intracerebral bleeding at 35 months after transplantation. (G) Case no. 7 who received a left lateral section graft.

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  Fig. 2 Liver findings of case no. 3. (A) Liver biopsy at posttransplant 4 months showing severe fatty change and severe bile duct damage (H&E, ×400). (B) Photograph of the explanted first liver graft showing liver failure with severe fatty changes.

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  Fig. 3 Kaplan–Meier curves showing graft survival (A) and overall patient survival (B).

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  Fig. 4 Immunohistochemical staining for bile salt export pump showing normal canalicular expression (A: normal control patient, ×200), focal loss (B: case no. 4, ×200), and total loss (C: case no. 2, ×200).

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